Canonical Allele Identifier: CA114151

Gene: VWF

Linked Data

• ClinVar Variation Id: 302
• ClinVar RCV Id: RCV000000329 ; RCV000087017
• dbSNP Id: rs61749393
• MyVariant Identifiers: chr12:g.6128644C>G (hg19) ; chr12:g.6019478C>G (hg38)
• ERepo: CA114151/MONDO:0015629/081
• PubMed: PMID:1419803 ; PMID:20409624

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019478C>G , CM000674.2:g.6019478C>G	GRCh38
NC_000012.11:g.6128644C>G , CM000674.1:g.6128644C>G	GRCh37
NC_000012.10:g.5998905C>G	NCBI36
NG_009072.1:g.110193G>C
NG_009072.2:g.110193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3940G>C MANE Select	ENSP00000261405.5:p.Val1314Leu
ENST00000261405.9:c.3940G>C	ENSP00000261405.5:p.Val1314Leu
ENST00000538635.5:n.421-25544G>C
NM_000552.3:c.3940G>C	NP_000543.2:p.Val1314Leu
NM_000552.4:c.3940G>C	NP_000543.2:p.Val1314Leu
NM_000552.5:c.3940G>C MANE Select	NP_000543.3:p.Val1314Leu